Variant report

Variant	esv3395032
Chromosome Location	chr5:7739652-7743850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:7733514..7736252-chr5:7736953..7739849,2	MCF-7	breast:

Extended variants
information (count: 190 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112952037	chr5:7739720-7739721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576527646	chr5:7739742-7739743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562222694	chr5:7739748-7739749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151209049	chr5:7739753-7739754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114082643	chr5:7739780-7739781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543820321	chr5:7739795-7739796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149554240	chr5:7739805-7739806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148457308	chr5:7739838-7739839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10462645	chr5:7739867-7739868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs546277982	chr5:7739892-7739893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559847542	chr5:7739935-7739936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191870297	chr5:7739956-7739957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142636281	chr5:7739959-7739960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201104963	chr5:7739969-7739970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369735395	chr5:7740005-7740006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538154979	chr5:7740029-7740030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550655643	chr5:7740057-7740058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570858784	chr5:7740086-7740087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539883221	chr5:7740100-7740101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182877610	chr5:7740102-7740103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186641773	chr5:7740105-7740106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146484643	chr5:7740115-7740116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79767632	chr5:7740125-7740126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75963874	chr5:7740138-7740139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569030353	chr5:7740163-7740164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191923116	chr5:7740214-7740215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141311702	chr5:7740221-7740222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564479416	chr5:7740232-7740233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115212452	chr5:7740238-7740239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374649583	chr5:7740247-7740248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577200214	chr5:7740252-7740253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184162830	chr5:7740299-7740300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187623250	chr5:7740357-7740358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559786444	chr5:7740386-7740387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78550095	chr5:7740505-7740506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193168177	chr5:7740519-7740520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562708461	chr5:7740568-7740569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368972776	chr5:7740569-7740570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531456057	chr5:7740575-7740576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185049460	chr5:7740591-7740592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571604034	chr5:7740626-7740627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539822171	chr5:7740660-7740661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34808416	chr5:7740666-7740667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190649095	chr5:7740689-7740690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146794239	chr5:7740764-7740765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535948343	chr5:7741089-7741090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555625751	chr5:7741112-7741113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62342472	chr5:7741153-7741154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs538088461	chr5:7741203-7741204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34205797	chr5:7741265-7741266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7688000-7743200	Weak transcription	Brain Substantia Nigra	brain
2	chr5:7705800-7745200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:7705800-7755000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:7711000-7783600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:7712000-7746000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:7719000-7768800	Weak transcription	Brain Anterior Caudate	brain
7	chr5:7719000-7785000	Weak transcription	Aorta	Aorta
8	chr5:7719600-7746200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:7720000-7743200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:7720400-7757400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:7722400-7741400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:7722400-7741600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:7722400-7745000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:7722400-7745800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:7727000-7747400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:7727400-7747600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:7727400-7747600	Weak transcription	Fetal Stomach	stomach
18	chr5:7728000-7741600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:7728000-7757800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:7734800-7748800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:7736600-7741600	Weak transcription	Fetal Lung	lung
22	chr5:7741000-7742400	Weak transcription	Psoas Muscle	Psoas
23	chr5:7741400-7742000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
24	chr5:7741600-7741800	ZNF genes & repeats	Brain Angular Gyrus	brain
25	chr5:7741600-7741800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
26	chr5:7741600-7741800	Enhancers	Gastric	stomach
27	chr5:7741600-7742000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr5:7741600-7742000	ZNF genes & repeats	Fetal Brain Male	brain
29	chr5:7741600-7742000	ZNF genes & repeats	Fetal Kidney	kidney
30	chr5:7741600-7742000	ZNF genes & repeats	Fetal Lung	lung
31	chr5:7741800-7742400	Weak transcription	Brain Angular Gyrus	brain
32	chr5:7741800-7763800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:7742000-7742400	Weak transcription	Gastric	stomach
34	chr5:7742000-7743200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:7742000-7744000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr5:7742000-7745600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:7742000-7746200	Weak transcription	Fetal Lung	lung
38	chr5:7742000-7746400	Weak transcription	Fetal Kidney	kidney
39	chr5:7742000-7749000	Weak transcription	Fetal Brain Male	brain
40	chr5:7742200-7743000	Enhancers	NHEK	skin
41	chr5:7742400-7742600	Enhancers	Psoas Muscle	Psoas
42	chr5:7742400-7743000	Enhancers	Gastric	stomach
43	chr5:7743200-7743800	Enhancers	Brain Substantia Nigra	brain
44	chr5:7743200-7744400	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr5:7743800-7746200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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